Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cervical kyphosis
Always present (100%)HP:0002947
Cervical spine instability
Always present (100%)HP:0010646
Flat midface
Always present (100%)HP:0011800
Flat nasal bridge
Always present (100%)HP:0005280
Hypoplastic mandible condyle
Always present (100%)HP:0000347
Hypospadias
Always present (100%)HP:0000047
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Apnea
Frequent (30-79%)HP:0002104
Big calvaria
Frequent (30-79%)HP:0000256
Bilateral clubfeet
Frequent (30-79%)HP:0001776
Bowed long bones
Frequent (30-79%)HP:0006487
Hearing loss, conductive
Frequent (30-79%)HP:0000405
Kyphoscoliosis
Frequent (30-79%)HP:0002751
Low-set ears
Frequent (30-79%)HP:0000369
Patellar hypoplasia
Frequent (30-79%)HP:0003065
Pretibial dimple
Frequent (30-79%)HP:0032538
Radial head dislocation
Frequent (30-79%)HP:0003083
Relatively large head
Frequent (30-79%)HP:0004482
Respiratory distress, neonatal
Frequent (30-79%)HP:0002643
Scapular hypoplasia
Frequent (30-79%)HP:0000882
Scoliosis
Frequent (30-79%)HP:0002650
Shortened 1st long bone of hand
Frequent (30-79%)HP:0010034
shortened long tubular bones
Frequent (30-79%)HP:0003026
Stridor
Frequent (30-79%)HP:0010307
11 pairs of ribs
Occasional (5-29%)HP:0000878
Anterior tibial bowing
Occasional (5-29%)HP:0006390
Contracture of the distal interphalangeal joint of the fingers
Occasional (5-29%)HP:0009697
Delayed maturation of end part of long bone
Occasional (5-29%)HP:0002663
Dental cavities
Occasional (5-29%)HP:0000670
Dislocated femoral heads
Occasional (5-29%)HP:0002827
Quick Facts
- SNOMED CT
- 74928006
- UMLS CUI
- C1842462
- Fully Specified Name
- Camptomelic dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.